Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.6K
DNA Microarrays02:34

DNA Microarrays

20.7K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
20.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.3K
Karyotyping01:17

Karyotyping

68.1K
Overview
68.1K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Evaluation of a Community-based Quality Improvement Smoking Cessation Program Using the Ottawa Model During COVID-19.

CJC open·2026
Same author

Cytogenetic and Microarray Analysis Follow-Up of PGT-A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of Confirmation and Follow-Up Recommendations.

Prenatal diagnosis·2026
Same author

Prenatal Microarray Analysis of Pregnancies Without Ultrasound Anomalies: Establishment of Copy Number and Homozygosity Frequencies in Low-Risk Population.

Genes·2026
Same author

Co-Producing a Patient Reported Experience Measure (PREM) With and for People With Intellectual Disability.

Health expectations : an international journal of public participation in health care and health policy·2026
Same author

Atrial Fibrillation Recurrence After Left Atrial Appendage Occlusion in Patients Undergoing Ablation: The OPTION Trial Sub analysis.

JACC. Clinical electrophysiology·2025
Same author

Global variation in patterns of care and time to initial treatment for breast, cervical, and ovarian cancer from 2015 to 2018 (VENUSCANCER): a secondary analysis of individual records for 275 792 women from 103 population-based cancer registries in 39 countries and territories.

Lancet (London, England)·2025

相关实验视频

Updated: Jan 17, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.5K

使用SNP微阵列检测异构体:频率,确定和影响

Sharon Molinari1, Niecy Williams1, Gloria Haskell1

  • 1Center for Molecular Biology and Pathology, Labcorp, Durham, North Carolina, USA.

American journal of medical genetics. Part A
|September 22, 2025
PubMed
概括

这项研究分析了超过415,000个染色体微阵列测试,在0.04%的病例中发现异构症. 研究结果显示,在不同样本类型中,其频率和临床相关性各不相同,这突显了诊断价值.

关键词:
这是一种异构体 (isodisomy).单个核酸多态微阵列 (SNP微阵列)单亲异构 (UPD) 是指单亲异构.

更多相关视频

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.4K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.8K

相关实验视频

Last Updated: Jan 17, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.5K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.4K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.8K

科学领域:

  • 遗传学 遗传学 是一个
  • 染色体异常 染色体异常
  • 生殖医学 生殖医学

背景情况:

  • 整体染色体异构症是一种罕见的事件,具有显著的临床影响.
  • 染色体微阵列 (CMA) 是检测染色体异常的关键诊断工具.

研究的目的:

  • 为了调查全染色体异位分裂的频率,确定和临床意义.
  • 在不同样本类型 (产前,产后,受孕产物) 中分析异构体的模式.

主要方法:

  • 对2008年以来进行的CMA测试的大型数据库 (>415,000) 的分析.
  • 检查异构症病例的频率,染色体参与和原始来源.
  • 发现与样本类型和临床结果的相关性.

主要成果:

  • 在0.04%的病例中,确定了异构体.
  • 根据样本类型观察到染色体参与和原始原始的不同模式.
  • 异构体14在产前很常见;染色体6,7,15在产后很常见.
  • 印制染色体在产后异分体病例中更为普遍,父系起源更为常见.
  • 发现了致病变体的揭露,以及与致死性相关的相关性.

结论:

  • CMA对于诊断异构症和理解其临床相关性至关重要.
  • 在产前和产后环境之间,异构体的模式有很大差异.
  • 需要进一步研究印记染色体在异构症中的参与.